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Acceptor Splice Site SNP

Known as: Intronic, Acceptor Splice Site SNP 
A heritable single nucleotide polymorphism located at the acceptor splice site in certain allelic variants of eukaryotic genes. These sites are… Expand
National Institutes of Health

Papers overview

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Highly Cited
2015
Highly Cited
2015
Identification of a putative quantitative trait nucleotide in guanylate binding protein 5 for host response to PRRS virus infection
BackgroundPreviously, we identified a major quantitative trait locus (QTL) for host response to Porcine Respiratory and… Expand
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2013
2013
Functional Analysis of Deep Intronic SNP rs13438494 in Intron 24 of PCLO Gene
The single nucleotide polymorphism (SNP) rs13438494 in intron 24 of PCLO was significantly associated with bipolar disorder in a… Expand
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Highly Cited
2012
Highly Cited
2012
Novel Genetic Loci Identified for the Pathophysiology of Childhood Obesity in the Hispanic Population
Genetic variants responsible for susceptibility to obesity and its comorbidities among Hispanic children have not been identified… Expand
Highly Cited
2011
Highly Cited
2011
Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene / allele-specific silencing of mutant huntingtin.
Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by CAG-expansion in the huntingtin gene (HTT… Expand
Highly Cited
2011
Highly Cited
2011
Involvement of the atrial natriuretic peptide transcription factor GATA4 in alcohol dependence, relapse risk and treatment response to acamprosate
In alcoholism, both relapse to alcohol drinking and treatment response are suggested to be genetically modulated. This study set… Expand
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Highly Cited
2010
Highly Cited
2010
A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis.
Periodontitis is a widespread, complex inflammatory disease of the mouth, which results in a loss of gingival tissue and alveolar… Expand
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2009
2009
Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus
Background and purpose:  Febrile Seizure can be associated with heterogeneous epilepsy phenotypes regrouped in a syndrome called… Expand
Highly Cited
2007
Highly Cited
2007
Alternative splicing due to an intronic SNP in HMSD generates a novel minor histocompatibility antigen.
Here we report the identification of a novel human leukocyte antigen (HLA)-B44-restricted minor histocompatibility antigen (mHA… Expand
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Highly Cited
2006
Highly Cited
2006
A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine
Research to date has identified several genes that are implicated in the etiology of ossification of the posterior longitudinal… Expand
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Highly Cited
2003
Highly Cited
2003
Association of a promoter variant in the inducible cyclooxygenase-2 gene (PTGS2) with type 2 diabetes mellitus in Pima Indians
Recent studies have suggested that prostaglandin-endoperoxide synthase-2 (PTGS2), also known as cyclo-oxygenase 2, plays an… Expand
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